Congenital muscular dystrophy with merosin deficiency : MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin alpha2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormali...

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Bibliographic Details
Published in:Neuroradiology 1998-12, Vol.40 (12), p.807-811
Main Authors: FARINA, L, MORANDI, L, MILANESI, I, CICERI, E, MORA, M, MORONI, I, PANTALEONI, C, SAVOIARDO, M
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child
Child, Preschool
Creatine Kinase - blood
Diseases of striated muscles. Neuromuscular diseases
Female
Humans
Laminin - deficiency
Magnetic Resonance Imaging
Male
Medical sciences
Muscular Dystrophies - congenital
Muscular Dystrophies - metabolism
Muscular Dystrophies - pathology
Neurology
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Summary:We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin alpha2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin.
ISSN:0028-3940
1432-1920
DOI:10.1007/s002340050689